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J. P. Barbera

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Articles

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta‐analysis

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By H. Mustafa, Riley Children, J. P. Barbera, E. V. Sambatur
| Wiley Online Library Verified
What are the novel findings of this work? Of the 268 cases of prenatally diagnosed agenesis of the corpus callosum (ACC), 43% had a pathogenic/likely pathogenic variant identified on exome sequencing following negative chromosomal microarray analysis. The highest yield was observed in ACC with extracranial anomalies (55%), followed by ACC with other cranial anomalies (43%) and isolated ACC (32%). We classified 116 pathogenic/likely pathogenic genetic variants in 83 genes associated with ACC.
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